No-cost genetic testing in the US

All precision medicine for IRDs including our RNA therapies begin with knowing the specific mutations underlying the disease. Retina specialists informed us that barriers to genetic testing remain and cause significant challenges for people with inherited retinal diseases living in the US. This is why we have decided to support the My Retina Tracker program.

My Retina Tracker logo
What is My Retina Tracker?

What is the My Retina Tracker program?

The Foundation Fighting Blindness has created an open access, no-cost genetic testing program for individuals living in the United States with a clinical diagnosis of an inherited retinal disease. Eligibility criteria are listed below.

The genetic test is performed by Blueprint Genetics and healthcare providers can order the test from their webpage:

Order a genetic test

Dr. Maldonado about My Retina Tracker

An explanation of how the program works and how both patients and scientists can benefit.

What is genetic testing?

What is genetic testing and why is it important?

Genetic testing is a type of medical test that identifies what mutation causes a person’s disease or whether someone carries a mutation that can cause a disease. Genetic testing is the only way to receive an accurate diagnosis and will determine whether there is a treatment or clinical trial available.

Learn more about genetic testing for inherited retinal diseases and why it is important.

For people with an IRD

For people with an IRD

How to get genetic testing through the My Retina Tracker program?

  • To get started, talk to your doctor about the program.
  • Once your doctor has confirmed the test is right for you. He or she can order the test online.
  • The tests kit will be sent to your home.
  • You collect a saliva sample by spitting in the tube and send it back using the provided return label. 
  • Your healthcare provider will get your results around 4 weeks later. 
  • A genetic counselor will give you a call to explain the results. 
  • Follow up with a retina specialist to discuss further options (treatment plan, eye tests, availability of clinical trials, etc.)

Who is eligible for genetic testing in the My Retina Tracker program?

The person is clinically diagnosed with one of the inherited retinal degenerative diseases listed at the bottom of the page.

  • The person lives in the USA.
  • The person has not had any of the following types of genetic testing since 2016: 1) a test that examined more than 32 IRD-related genes; 2) a whole exome genetic test; 3) a whole genome genetic test.
  • The person does not solely have any of the following diagnoses: 1) age-related macular degeneration; 2) Glaucoma; 3) Optic neuropathy; 4) Cornea/anterior chamber disease; 5) Diabetic eye disease; 6) Non-genetic ocular or retinal damage diagnosis not listed in the requisition.

Please note, this test is not suitable for, and should not be used to, screen for eye diseases in general, it is only for use in identifying the causative gene for a confirmed clinical diagnosis of an IRD.

For all details regarding the program visit the Blueprint Genetics website.

For healthcare professionals

For healthcare professionals

Why should I order a genetic test for my patient?

  • The program is based on an existing My Retina Tracker Registry study that has been developed and utilized by leaders in the field of IRD genetics and therapeutics.
  • To date, over six thousand people with IRD have participated in this program, leading to a powerful genotype/phenotype database, and experienced genetic counselors to help guide your patients through the testing process.
  • The genetic test represents the best IRD diagnostic panel on the market today. It includes excellent coverage of the essential RPGR gene, including the ORF15 difficult to analyze region, high-resolution copy number variant (CNV) detection and known disease-causing non-coding variants.
  • Eligible individuals also receive no-charge genetic counseling through InformedDNA whose genetic counselors are experienced in providing genetic test interpretation and counseling to thousands of patients with IRD in comprehensive, individualized sessions.
  • Your patient has the opportunity to enroll in the Foundation Fighting Blindness My Retina Tracker Registry during the counseling session and in doing so support research, development in the field of IRD diagnostics, and have the opportunity of being contacted about relevant clinical trials.

How do I order the My Retina Tracker test for my IRD patient?

The no-cost My Retina Tracker panel can be ordered from the Blueprint Genetics website following the steps below.

  • To place the order, login to Nucleus, Blueprint Genetics' ordering platform. If you are a new user, create an online account free-of-charge.
  • Select medical specialty “Ophthalmology” and then select “My Retina Tracker” Program panel.
  • Fill in the requisition form and submit. A printed copy of the order is not required.
  • Provide Blueprint Genetics the Sponsored Genetic Testing Informed Consent form signed by the patient (upload into Nucleus, fax or send with the patient sample).

For further assistance, please contact support.us@blueprintgenetics.com.

Eligible diagnoses

Inherited retinal diseases: Eligible diagnoses

  • achromatopsia
  • adult foveomacular vitelliform dystrophy
  • Alstrom disease
  • Bardet-Biedl syndrome (Laurence-Moon syndrome)
  • Best disease
  • Bietti crystalline corneoretinal dystrophy
  • choroidal dystrophy
  • choroideremia
  • cone dystrophy
  • cone monochromacy
  • cone-rod dystrophy
  • congenital stationary night blindness
  • fundus albipunctatus
  • fundus flavimaculatis
  • Goldman-Favre vitreoretinal dystrophy (enhanced s-cone syndrome)
  • Gyrate atrophy
  • Jalili syndrome
  • late-onset retinal degeneration (L-ORD)
  • Leber congenital amaurosis
  • macular dystrophy – juvenile inherited only
  • pattern dystrophy
  • Refsum syndrome
  • retinitis pigmentosa
  • retinitis pigmentosa atypical
  • retinitis punctata albescens)
  • retinoschisis – juvenile
  • rod dystrophy
  • rod monochromacy
  • Stargardt disease
  • Usher syndrome unspecified
  • Usher syndrome – type I
  • Usher syndrome – type II
  • Usher syndrome – type III
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